Canonical Allele Identifier: PA2499227928
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008856
ClinVar RCV Id: RCV001306259 RCV001531061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val213Met
CA4537021
NM_000083.3:c.637G>A